NQO1 NAD(P)H quinone dehydrogenase 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: NQO1provided by HGNC
Official Full Name: NAD(P)H quinone dehydrogenase 1provided by HGNC
Primary source: HGNC:HGNC:2874
See related: Ensembl:ENSG00000181019 MIM:125860; AllianceGenome:HGNC:2874
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: DTD; QR1; DHQU; DIA4; NMOR1; NMORI
Summary: This gene is a member of the NAD(P)H dehydrogenase (quinone) family and encodes a cytoplasmic 2-electron reductase. This FAD-binding protein forms homodimers and reduces quinones to hydroquinones. This protein's enzymatic activity prevents the one electron reduction of quinones that results in the production of radical species. Mutations in this gene have been associated with tardive dyskinesia (TD), an increased risk of hematotoxicity after exposure to benzene, and susceptibility to various forms of cancer. Altered expression of this protein has been seen in many tumors and is also associated with Alzheimer's disease (AD). Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]
Expression: Biased expression in stomach (RPKM 136.7), gall bladder (RPKM 67.3) and 11 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 16q22.1

Exon count:: 6

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	16	NC_000016.10 (69709401..69726560, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	16	NC_060940.1 (75511583..75528719, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	16	NC_000016.9 (69743304..69760463, complement)

Chromosome 16 - NC_000016.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

UBA2 SUMOylates NQO1 and promotes the proliferation of hepatocellular carcinoma by modulating the MAPK pathway.
Title: UBA2 SUMOylates NQO1 and promotes the proliferation of hepatocellular carcinoma by modulating the MAPK pathway.
NQO1 polymorphism and susceptibility to ischemic stroke in a Chinese population.
Title: NQO1 polymorphism and susceptibility to ischemic stroke in a Chinese population.
DPP9 regulates NQO1 and ROS to promote resistance to chemotherapy in liver cancer cells.
Title: DPP9 regulates NQO1 and ROS to promote resistance to chemotherapy in liver cancer cells.
Correlation of PD-L1 expression with CD8+ T cells and oxidative stress-related molecules NRF2 and NQO1 in esophageal squamous cell carcinoma.
Title: Correlation of PD-L1 expression with CD8+ T cells and oxidative stress-related molecules NRF2 and NQO1 in esophageal squamous cell carcinoma.
A single evolutionarily divergent mutation determines the different FAD-binding affinities of human and rat NQO1 due to site-specific phosphorylation.
Title: A single evolutionarily divergent mutation determines the different FAD-binding affinities of human and rat NQO1 due to site-specific phosphorylation.
Loss-of-function polymorphisms in NQO1 are not associated with the development of subacute myelo-optico-neuropathy.
Title: Loss-of-function polymorphisms in NQO1 are not associated with the development of subacute myelo-optico-neuropathy.
NAD(P)H-quinone oxidoreductase 1 induces complicated effects on mitochondrial dysfunction and ferroptosis in an expression level-dependent manner.
Title: NAD(P)H-quinone oxidoreductase 1 induces complicated effects on mitochondrial dysfunction and ferroptosis in an expression level-dependent manner.
Structural dynamics and functional cooperativity of human NQO1 by ambient temperature serial crystallography and simulations.
Title: Structural dynamics and functional cooperativity of human NQO1 by ambient temperature serial crystallography and simulations.
Genetic variants affecting NQO1 protein levels impact the efficacy of idebenone treatment in Leber hereditary optic neuropathy.
Title: Genetic variants affecting NQO1 protein levels impact the efficacy of idebenone treatment in Leber hereditary optic neuropathy.
Impact of NQO1 dysregulation in CNS disorders.
Title: Impact of NQO1 dysregulation in CNS disorders.

Submit: New GeneRIF Correction See all GeneRIFs (404)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Envelope surface glycoprotein gp120	env	HIV-1 gp120 significantly upregulates Nrf2 in human astrocytes and is associated with increased levels of key antioxidant defensive enzymes Hemoxygenase (HO-1) and NAD(P)H dehydrogenase quinone1 (Nqo1)	PubMed
Rev	rev	HIV-1 Rev downregulates the expression of NQO1 which indirectly induces the degradation of Tat	PubMed
Tat	tat	HIV-1 Tat upregulates NQO1, CAT, SOD1, SOD2, and HMOX1 (HO1) mRNA levels in SH-SY5Y cells	PubMed
	tat	HIV-1 Tat is stabilized by NQO1, inhibitor of 20S poteasome	PubMed

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Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

NQO1_2205 (e-PCR)
- UniSTS:280869

D8S2279 (e-PCR)
- UniSTS:473907

NQO1 (e-PCR)
- UniSTS:278844

SHGC-31516 (e-PCR)
- UniSTS:54590

RH68871 (e-PCR)
- UniSTS:27279

GDB:180917 (e-PCR)
- UniSTS:155122

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables NAD(P)H dehydrogenase (quinone) activity	IBA Inferred from Biological aspect of Ancestor more info
enables NADH:ubiquinone reductase (non-electrogenic) activity	IDA Inferred from Direct Assay more info	PubMed
enables NADPH dehydrogenase (quinone) activity	IEA Inferred from Electronic Annotation more info
enables RNA binding	HDA more info	PubMed
enables cytochrome-b5 reductase activity, acting on NAD(P)H	TAS Traceable Author Statement more info	PubMed
enables identical protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables superoxide dismutase activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in NADH oxidation	IEA Inferred from Electronic Annotation more info
involved_in NADPH oxidation	IEA Inferred from Electronic Annotation more info
involved_in cell redox homeostasis	IEP Inferred from Expression Pattern more info	PubMed
involved_in cellular response to hydrogen peroxide	IEA Inferred from Electronic Annotation more info
involved_in cellular response to metal ion	IEA Inferred from Electronic Annotation more info
involved_in cellular response to oxidative stress	IDA Inferred from Direct Assay more info	PubMed
involved_in innate immune response	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of apoptotic process	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of ferroptosis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of protein catabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in nitric oxide biosynthetic process	TAS Traceable Author Statement more info	PubMed
involved_in positive regulation of neuron apoptotic process	IEA Inferred from Electronic Annotation more info
involved_in protein catabolic process	IEA Inferred from Electronic Annotation more info
involved_in protein polyubiquitination	IEA Inferred from Electronic Annotation more info
involved_in removal of superoxide radicals	IDA Inferred from Direct Assay more info	PubMed
involved_in response to L-glutamine	IEA Inferred from Electronic Annotation more info
involved_in response to alkaloid	IEA Inferred from Electronic Annotation more info
involved_in response to amine	IEA Inferred from Electronic Annotation more info
involved_in response to carbohydrate	IEA Inferred from Electronic Annotation more info
involved_in response to electrical stimulus	IEA Inferred from Electronic Annotation more info
involved_in response to estradiol	IEA Inferred from Electronic Annotation more info
involved_in response to ethanol	IEA Inferred from Electronic Annotation more info
involved_in response to flavonoid	IEA Inferred from Electronic Annotation more info
involved_in response to hormone	IEA Inferred from Electronic Annotation more info
involved_in response to hydrogen sulfide	IEA Inferred from Electronic Annotation more info
involved_in response to ischemia	IEA Inferred from Electronic Annotation more info
involved_in response to lipopolysaccharide	IEA Inferred from Electronic Annotation more info
involved_in response to nutrient	IEA Inferred from Electronic Annotation more info
involved_in response to oxidative stress	IEP Inferred from Expression Pattern more info	PubMed
involved_in response to testosterone	IEA Inferred from Electronic Annotation more info
involved_in response to tetrachloromethane	IEA Inferred from Electronic Annotation more info
involved_in response to toxic substance	TAS Traceable Author Statement more info	PubMed
involved_in synaptic transmission, cholinergic	TAS Traceable Author Statement more info	PubMed
involved_in ubiquinone metabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in vitamin E metabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in vitamin K metabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in xenobiotic metabolic process	TAS Traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
located_in cytoplasm	TAS Traceable Author Statement more info	PubMed
is_active_in cytosol	IBA Inferred from Biological aspect of Ancestor more info
located_in cytosol	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	TAS Traceable Author Statement more info
located_in dendrite	IEA Inferred from Electronic Annotation more info
located_in neuronal cell body	IEA Inferred from Electronic Annotation more info
located_in nucleus	IEA Inferred from Electronic Annotation more info
located_in synapse	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: NAD(P)H dehydrogenase [quinone] 1

Names: DT-diaphorase; NAD(P)H dehydrogenase, quinone 1; NAD(P)H-quinone oxidoreductase; NAD(P)H:Quinone acceptor oxidoreductase type 1; NAD(P)H:menadione oxidoreductase 1; NAD(P)H:quinone oxidoreductase 1; NAD(P)H:quinone oxireductase; azoreductase; diaphorase (NADH/NADPH) (cytochrome b-5 reductase); diaphorase-4; dioxin-inducible 1; menadione reductase; phylloquinone reductase; quinone reductase 1

NP_000894.1

EC 1.6.5.2

NP_001020604.1

EC 1.6.5.2

NP_001020605.1

EC 1.6.5.2

NP_001273066.1

EC 1.6.5.2

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_011504.2 RefSeqGene

Range

5071..22230

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_000903.3 → NP_000894.1 NAD(P)H dehydrogenase [quinone] 1 isoform a

See identical proteins and their annotated locations for NP_000894.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (a).

Source sequence(s)

AV729122, BC007659, BM052991, BM452267, BM787983, BM828301

Consensus CDS

CCDS10883.1

UniProtKB/Swiss-Prot

B2R5Y9, B4DNM7, B7ZAD1, P15559, Q86UK1

UniProtKB/TrEMBL

Q53G81

Related

ENSP00000319788.5, ENST00000320623.10

Conserved Domains (1) summary

pfam02525
Location:5 → 212

Flavodoxin_2; Flavodoxin-like fold
NM_001025433.2 → NP_001020604.1 NAD(P)H dehydrogenase [quinone] 1 isoform b

See identical proteins and their annotated locations for NP_001020604.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) lacks an alternate in-frame exon, compared to variant 1. The resulting protein (isoform b) is shorter than isoform a.

Source sequence(s)

AV729122, BC000906, BC007659, BM052991, BM452267, BM787983, BM828301

Consensus CDS

CCDS32472.1

UniProtKB/TrEMBL

Q53G81

Related

ENSP00000368335.3, ENST00000379047.7

Conserved Domains (1) summary

pfam02525
Location:5 → 178

Flavodoxin_2; Flavodoxin-like fold
NM_001025434.2 → NP_001020605.1 NAD(P)H dehydrogenase [quinone] 1 isoform c

See identical proteins and their annotated locations for NP_001020605.1

Status: REVIEWED

Description

Transcript Variant: This variant (3) lacks an alternate in-frame exon, compared to variant 1. The resulting protein (isoform c) is shorter than isoform a.

Source sequence(s)

AV729122, BM052991, BM787983, BM828301, CD014005

Consensus CDS

CCDS32471.1

UniProtKB/TrEMBL

Q3B792

Related

ENSP00000368334.2, ENST00000379046.6

Conserved Domains (1) summary

pfam02525
Location:5 → 174

Flavodoxin_2; Flavodoxin-like fold
NM_001286137.2 → NP_001273066.1 NAD(P)H dehydrogenase [quinone] 1 isoform d

See identical proteins and their annotated locations for NP_001273066.1

Status: REVIEWED

Description

Transcript Variant: This variant (4) lacks two alternate in-frame exons compared to variant 1. The resulting protein (isoform d) is shorter than isoform a.

Source sequence(s)

AC092115, AK297125, BQ775231

Consensus CDS

CCDS67067.1

UniProtKB/TrEMBL

B4DLR8, Q3B792

Related

ENSP00000398330.2, ENST00000439109.6

Conserved Domains (1) summary

cl00438
Location:4 → 101

FMN_red; NADPH-dependent FMN reductase